Incidental Mutation 'R4431:Cldn8'
ID 328632
Institutional Source Beutler Lab
Gene Symbol Cldn8
Ensembl Gene ENSMUSG00000050520
Gene Name claudin 8
Synonyms
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 88357716-88360071 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88359619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 102 (M102R)
Ref Sequence ENSEMBL: ENSMUSP00000051887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049697]
AlphaFold Q9Z260
Predicted Effect probably damaging
Transcript: ENSMUST00000049697
AA Change: M102R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520
AA Change: M102R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.9e-32 PFAM
Pfam:Claudin_2 15 184 5.6e-10 PFAM
Meta Mutation Damage Score 0.5186 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a paracellular cation barrier. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Cldn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02888:Cldn8 APN 16 88,359,271 (GRCm39) missense probably benign 0.00
R0038:Cldn8 UTSW 16 88,359,922 (GRCm39) start codon destroyed probably null 1.00
R0038:Cldn8 UTSW 16 88,359,922 (GRCm39) start codon destroyed probably null 1.00
R0332:Cldn8 UTSW 16 88,359,246 (GRCm39) synonymous silent
R0690:Cldn8 UTSW 16 88,359,527 (GRCm39) missense probably damaging 1.00
R1496:Cldn8 UTSW 16 88,359,289 (GRCm39) missense probably benign
R1832:Cldn8 UTSW 16 88,359,746 (GRCm39) missense probably benign 0.07
R3052:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R3053:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4428:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4429:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4430:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4465:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4485:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4659:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4660:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4662:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4679:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4741:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R6591:Cldn8 UTSW 16 88,359,423 (GRCm39) missense possibly damaging 0.73
R6691:Cldn8 UTSW 16 88,359,423 (GRCm39) missense possibly damaging 0.73
R7684:Cldn8 UTSW 16 88,359,335 (GRCm39) missense probably damaging 1.00
R7959:Cldn8 UTSW 16 88,359,829 (GRCm39) missense probably damaging 1.00
R8987:Cldn8 UTSW 16 88,359,733 (GRCm39) missense probably damaging 1.00
R9065:Cldn8 UTSW 16 88,359,902 (GRCm39) missense probably benign
R9756:Cldn8 UTSW 16 88,359,917 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TTTAGGGCCACATCCACCAG -3'
(R):5'- GTGGCTGTGACTATCATGCCTC -3'

Sequencing Primer
(F):5'- CCAGTGGGTTGTAGAAGTCTC -3'
(R):5'- AGAGTGTCTGCCTTCATCGAAAG -3'
Posted On 2015-07-21